Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison

Abstract

ObjectivesTo describe the epidemiology of diagnosed hypermobility spectrum disorder (HSD) and Ehlers-Danlos syndromes (EDS) using linked electronic medical records. To examine whether these conditions remain rare and primarily affect the musculoskeletal system.DesignNationwide linked electronic cohort and nested case–control study.SettingRoutinely collected data from primary care and hospital admissions in Wales, UK.ParticipantsPeople within the primary care or hospital data systems with a coded diagnosis of EDS or joint hypermobility syndrome (JHS) between 1 July 1990 and 30 June 2017.Main outcome measuresCombined prevalence of JHS and EDS in Wales. Additional diagnosis and prescription data in those diagnosed with EDS or JHS compared with matched controls.ResultsWe found 6021 individuals (men: 30%, women: 70%) with a diagnostic code of either EDS or JHS. This gives a diagnosed point prevalence of 194.2 per 100 000 in 2016/2017 or roughly 10 cases in a practice of 5000 patients. There was a pronounced gender difference of 8.5 years (95% CI: 7.70 to 9.22) in the mean age at diagnosis. EDS or JHS was not only associated with high odds for other musculoskeletal diagnoses and drug prescriptions but also with significantly higher odds of a diagnosis in other disease categories (eg, mental health, nervous and digestive systems) and higher odds of a prescription in most disease categories (eg, gastrointestinal and cardiovascular drugs) within the 12 months before and after the first recorded diagnosis.ConclusionsEDS and JHS (since March 2017 classified as EDS or HSD) have historically been considered rare diseases only affecting the musculoskeletal system and soft tissues. These data demonstrate that both these assertions should be reconsidered.

Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

“…Hypermobile EDS is the most common type of EDS and is thought to account for 80–90% of EDS cases (Tinkle et al, ). The incidence of hEDS is not currently known but a recent study suggests a combined incidence of hEDS and hypermobility spectrum disorders (HSD) at 10 in 5000 (Demmler et al, ).…”

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

“…90 Demmler et al recently reported the combined prevalence of hEDS and HSD to be 1 in 500 people in Wales with 70% of the diagnosed being women, suggesting that hEDS/HSD prevalence has been grossly underestimated. 91 With the spectrum of severity, variation in symptom presentation and the lack of an effective clinical diagnostic test, it is not uncommon for patients to go years undiagnosed with hEDS. Because of this, it can be assumed that the actual prevalence of hEDS is higher than reported.…”

“…T A B L E 3 The five-point questionnaire 91 1. Can you now (or could you ever) place your hands flat on the floor without bending your knees?…”

Beyond Bones - The Relevance of Variants of Connective Tissue (Hypermobility) to Fibromyalgia, Me/CFS and Controversies Surrounding Diagnostic Classification: An Observational Study

“…21.20025072 doi: medRxiv preprint relationships. A rich debate has been stimulated by a recent paper reporting the prevalence of EDS and JHS 33 . While other forms of EDS are likely rare, the present study suggests hEDS is common among patients with pain and fatigue.…”